Prenatal diagnosis of a lethal osteochondrodysplasia: short rib syndrome and polydactyly type I

Authors

  • Ana Esther Algora Hernández Centro Provincial de Genética, Villa Clara
  • Noel Taboada Lugo Centro Provincial de Genética, Villa Clara http://orcid.org/0000-0002-1254-8087
  • Lourdes Rodríguez Royero Hospital Ginecobstétrico “Mariana Grajales”, Villa Clara
  • Eliecer Anoceto Armiñana Hospital Ginecobstétrico “Mariana Grajales”, Villa Clara

Keywords:

prenatal diagnosis, bone diseases, developmental, osteochondrodysplasias, short rib-polydactyly syndrome

Abstract

Osteochondrodysplasias is characterized by the shortening of the long bones. There are parameters that help to identify the specific type of skeletal dysplasia, but despite technological advances the differential diagnosis between them is a challenge. It is possible to make a prenatal diagnosis of these dysplasias in 85% of cases, with a specific diagnosis in about half of them. It is presented a case of a fetus of 22.2 weeks in which occurs ultrasonographic findings were found compatible with a lethal osteochondrodysplasia. With anatopathologics findings and, above all, radiological, we could identify the specific type of skeletal dysplasia present in the fetus: short rib and polydactyly syndrome type I or Saldino-Noonan syndrome of low incidence characterized by shortening of limbs, polydactyly and narrow thorax with short ribs, which produces death from respiratory failure as a result of pulmonary hypoplasia, in the first hours of life.

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Author Biographies

Ana Esther Algora Hernández, Centro Provincial de Genética, Villa Clara

Especialista de I y II Grado en Genética Clínica. Profesora Auxiliar de Genética Médica en la Universidad de Ciencias Médicas de Villa Clara.

Noel Taboada Lugo, Centro Provincial de Genética, Villa Clara

Especialista de I y II Grado en Medicina General Integral. Especialista de I y II Grado en Genética Clínica. Máster en Atención Integral al niño. Profesor Auxiliar de Genética Médica en la Universidad de Ciencias Médicas de Villa Clara.

Lourdes Rodríguez Royero, Hospital Ginecobstétrico “Mariana Grajales”, Villa Clara

Especialista de I Grado en Radiología. Profesora Asistente de la Universidad de Ciencias Médicas de Villa Clara “Dr. Serafín Ruiz de Zárate Ruiz”.

Eliecer Anoceto Armiñana, Hospital Ginecobstétrico “Mariana Grajales”, Villa Clara

Especialista de I y II Grado en Anatomía Patológica. Profesor Auxiliar de la Universidad de Ciencias Médicas de Villa Clara.

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How to Cite

1.
Algora Hernández AE, Taboada Lugo N, Rodríguez Royero L, Anoceto Armiñana E. Prenatal diagnosis of a lethal osteochondrodysplasia: short rib syndrome and polydactyly type I. Acta Méd Centro [Internet]. 2015 Mar. 25 [cited 2025 Jun. 27];9(1):44-9. Available from: https://revactamedicacentro.sld.cu/index.php/amc/article/view/216

Issue

Vol. 9 No. 1 (2015): January-March

Section

Case Reports

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